This study examines and tabulates all the clinical features of heritable disorders of connective tissue as they pertain to the cardiovascular system. The disorders of interest are Marfan Syndrome, Ehlers-Danlos Syndrome (EDS) and Stickler Syndrome, as well as related disorders such as Familial Aneurysm Syndromes and Fibromuscular Dysplasia. To date, approximately 1000 subjects have been enrolled in the study. The investigations include echocardiography, measurement of carotid intima thickness, measurement of ankle-brachial index and pulse wave velocity, MRI and MRA of the head and neck vessels and abdominal vessels. Novel findings include the increased incidence of brain aneurysms in patients with fibromuscular dysplasia, aortic root dilation in a subset of patients with Stickler Syndrome, and correlation of arterial dissections and aneurysms with endocrine and cytokine aberrations in patients with Vascular form of Ehlers Danlos Syndrome and Marfan Syndrome. The information obtained from this study will not only help the treatment of effected patients, but will also provide insights into the pathological processes of normal cardiovascular aging.

Agency
National Institute of Health (NIH)
Institute
National Institute on Aging (NIA)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIAAG000666-12
Application #
8552435
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
12
Fiscal Year
2012
Total Cost
$229,464
Indirect Cost
Name
National Institute on Aging
Department
Type
DUNS #
City
State
Country
Zip Code
Muller, Gerd A; Hansen, Uwe; Xu, Zhi et al. (2012) Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. FASEB J 26:668-77
Briest, Wilfried; Cooper, Timothy K; Tae, Hyun-Jin et al. (2011) Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome. J Pharmacol Exp Ther 337:621-7
Brooke, Benjamin S; Arnaoutakis, George; McDonnell, Nazli B et al. (2010) Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. J Vasc Surg 51:131-8; discussion 138-9